A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460857



Internal ID15174236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:133382546..133403372hg38UCSC Ensembl
Innerchr3:133101390..133122216hg19UCSC Ensembl
Innerchr3:134584080..134604906hg18UCSC Ensembl
Innerchr3:134584088..134604914hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3820827
hg1920827
hg1820827
hg1720827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537349
SamplesNINDS_88
Known GenesBFSP2, TMEM108
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv460857
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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